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101 results

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Page 1
An evolutionary driver of interspersed segmental duplications in primates.
Cantsilieris S, Sunkin SM, Johnson ME, Anaclerio F, Huddleston J, Baker C, Dougherty ML, Underwood JG, Sulovari A, Hsieh P, Mao Y, Catacchio CR, Malig M, Welch AE, Sorensen M, Munson KM, Jiang W, Girirajan S, Ventura M, Lamb BT, Conlon RA, Eichler EE. Cantsilieris S, et al. Among authors: girirajan s. Genome Biol. 2020 Aug 10;21(1):202. doi: 10.1186/s13059-020-02074-4. Genome Biol. 2020. PMID: 32778141 Free PMC article.
Population analysis of large copy number variants and hotspots of human genetic disease.
Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. Itsara A, et al. Among authors: girirajan s. Am J Hum Genet. 2009 Feb;84(2):148-61. doi: 10.1016/j.ajhg.2008.12.014. Epub 2009 Jan 22. Am J Hum Genet. 2009. PMID: 19166990 Free PMC article.
A burst of segmental duplications in the genome of the African great ape ancestor.
Marques-Bonet T, Kidd JM, Ventura M, Graves TA, Cheng Z, Hillier LW, Jiang Z, Baker C, Malfavon-Borja R, Fulton LA, Alkan C, Aksay G, Girirajan S, Siswara P, Chen L, Cardone MF, Navarro A, Mardis ER, Wilson RK, Eichler EE. Marques-Bonet T, et al. Among authors: girirajan s. Nature. 2009 Feb 12;457(7231):877-81. doi: 10.1038/nature07744. Nature. 2009. PMID: 19212409 Free PMC article.
The origins and impact of primate segmental duplications.
Marques-Bonet T, Girirajan S, Eichler EE. Marques-Bonet T, et al. Among authors: girirajan s. Trends Genet. 2009 Oct;25(10):443-54. doi: 10.1016/j.tig.2009.08.002. Epub 2009 Sep 30. Trends Genet. 2009. PMID: 19796838 Free PMC article. Review.
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. Girirajan S, et al. Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534. Epub 2010 Feb 14. Nat Genet. 2010. PMID: 20154674 Free PMC article.
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, Alkan C, Campbell CD, Vives L, Malig M, Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA, Wilson RK, Schwartz DC, Eichler EE. Antonacci F, et al. Among authors: girirajan s. Nat Genet. 2010 Sep;42(9):745-50. doi: 10.1038/ng.643. Epub 2010 Aug 22. Nat Genet. 2010. PMID: 20729854 Free PMC article.
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. O'Roak BJ, et al. Among authors: girirajan s. Nat Genet. 2011 Jun;43(6):585-9. doi: 10.1038/ng.835. Epub 2011 May 15. Nat Genet. 2011. PMID: 21572417 Free PMC article.
101 results